Variant report

Variant	nsv968236
Chromosome Location	chr5:115387064-115387961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:115387650-115387761	GM10248	blood:	n/a	n/a
2	CTCF	chr5:115387820-115388073	T-47D	breast:	n/a	n/a
3	EP300	chr5:115387842-115388124	T-47D	breast:	n/a	n/a
4	HEY1	chr5:115387552-115387699	HepG2	liver:	n/a	n/a
5	HEY1	chr5:115387486-115387885	K562	blood:	n/a	n/a
6	POLR2A	chr5:115387391-115387950	GM12892	blood:	n/a	n/a
7	POLR2A	chr5:115387400-115387417	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:115387564-115387601	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr5:115387516-115387921	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr5:115387340-115387396	MCF-7	breast:	n/a	n/a
11	POLR2A	chr5:115387554-115387751	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:115387539-115387966	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:115387552-115387778	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:115387378-115387408	A549	lung:	n/a	n/a
15	POLR2A	chr5:115387418-115387927	H1-hESC	embryonic stem cell:	n/a	n/a
16	SP1	chr5:115387864-115388076	H1-hESC	embryonic stem cell:	n/a	n/a
17	SPI1	chr5:115387785-115387952	GM12878	blood:	n/a	n/a
18	ZBTB33	chr5:115387518-115387987	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:115387951-115388001	HCM	heart:	n/a
2	chr5:115387951-115388001	SK-N-SH_RA	brain:	n/a
3	chr5:115387951-115388001	K562	blood:	n/a
4	chr5:115387951-115388001	BE2_C	brain:	n/a
5	chr5:115387951-115388001	PrEC	prostate:	n/a
6	chr5:115387951-115388001	HMEC	breast:	n/a
7	chr5:115387951-115388001	GM12891	blood:	n/a
8	chr5:115387951-115388001	MCF10A-Er-Src	breast:	n/a
9	chr5:115387951-115388001	BJ	skin:	n/a
10	chr5:115387951-115388001	HRCEpiC	kidney:	n/a
11	chr5:115387951-115388001	MCF-7	breast:	n/a
12	chr5:115387951-115388001	U87	brain:	n/a
13	chr5:115387951-115388001	NB4	blood:	n/a
14	chr5:115387951-115388001	H1-hESC	embryonic stem cell:	embryo
15	chr5:115387951-115388001	GM12878	blood:	n/a
16	chr5:115387951-115388001	GM12892	blood:	n/a
17	chr5:115387951-115388001	HPAEpiC	pulmonary alveolar:	n/a
18	chr5:115387951-115388001	HEEpiC	esophagus:	n/a
19	chr5:115387951-115388001	SKMC	muscle:	n/a
20	chr5:115387951-115388001	HRE	kidney:	n/a
21	chr5:115387951-115388001	HEK293	kidney:	embryo
22	chr5:115387951-115388001	ProgFib	skin:	n/a
23	chr5:115387951-115388001	NHBE	bronchial:	n/a
24	chr5:115387951-115388001	IMR90	lung:	fetal
25	chr5:115387951-115388001	HepG2	liver:	n/a
26	chr5:115387951-115388001	AG04449	skin:	fetal
27	chr5:115387951-115388001	Jurkat	blood:	n/a
28	chr5:115387951-115388001	PANC-1	pancreas:	n/a
29	chr5:115387951-115388001	AG10803	skin:	n/a
30	chr5:115387951-115388001	HCT-116	colon:	n/a
31	chr5:115387951-115388001	NT2-D1	testis:	n/a
32	chr5:115387951-115388001	RPTEC	kidney:	n/a
33	chr5:115387951-115388001	LNCaP	prostate:	n/a
34	chr5:115387951-115388001	ECC-1	luminal epithelium:	n/a
35	chr5:115387951-115388001	GM06990	blood:	n/a
36	chr5:115387951-115388001	T-47D	breast:	n/a
37	chr5:115387951-115388001	SAEC	small airway:	n/a
38	chr5:115387951-115388001	Hela-S3	cervix:	n/a
39	chr5:115387951-115388001	CMK	blood:	n/a
40	chr5:115387951-115388001	GM19239	blood:	n/a
41	chr5:115387951-115388001	AG09319	gingival:	n/a
42	chr5:115387951-115388001	HIPEpiC	eye:	n/a
43	chr5:115387951-115388001	AG09309	skin:	n/a
44	chr5:115387951-115388001	HCF	heart:	n/a
45	chr5:115387951-115388001	HUVEC	blood vessel:	n/a
46	chr5:115387951-115388001	A549	lung:	n/a
47	chr5:115387951-115388001	HRPEpiC	eye:	n/a
48	chr5:115387951-115388001	HL-60	blood:	n/a
49	chr5:115387951-115388001	HCPEpiC	choroid plexus:	n/a
50	chr5:115387951-115388001	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
ARL14EPL	TF binding region
ARL14EPL	CpG island

Extended variants
information (count: 0)
Associated
traits (count: 72 )

No data

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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